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Restless legs syndrome‐associated MEIS1 risk variant influences iron homeostasis
Author(s) -
Catoire Hélène,
Dion Patrick A.,
Xiong Lan,
Amari Mourabit,
Gaudet Rebecca,
Girard Simon L.,
Noreau Anne,
Gaspar Claudia,
Turecki Gustavo,
Montplaisir Jacques Y.,
Parker J. Alex,
Rouleau Guy A.
Publication year - 2011
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.22435
Subject(s) - ferritin , restless legs syndrome , caenorhabditis elegans , iron homeostasis , haplotype , biology , homeostasis , gene , gene expression , genetics , endocrinology , rna interference , medicine , rna , allele , neuroscience , biochemistry , neurology
Restless legs syndrome (RLS) is a frequent sleep disorder that is linked to disturbed iron homeostasis. Genetic studies identified MEIS1 as an RLS‐predisposing gene, where the RLS risk haplotype is associated with decreased MEIS1 mRNA and protein expression. We show here that RNA interference treatment of the MEIS1 worm orthologue increases ferritin expression in Caenorhabditis elegans and that the RLS‐associated haplotype leads to increased expression of ferritin and DMT1 in RLS brain tissues. Additionally, human cells cultured under iron‐deficient conditions show reduced MEIS1 expression. Our data establish a link between the RLS MEIS1 gene and iron metabolism. Ann Neurol 2011;